Varaico: Literature-Extracted Genetic Variants

SIPA1L2

153 papers

RefSeq Summary

This gene encodes a member of the signal-induced proliferation-associated 1 like family. Members of this family contain a GTPase activating domain, a PDZ domain and a C-terminal coiled-coil domain wit...

Pfam Domains

Rap-GAP_dimeraa 483–558UCSCRap/Ran-GAP protein dimerization domain

Rap_GAPaa 624–806UCSCRap/ran-GAP

PDZaa 950–1022UCSCPDZ domain

SPAR_Caa 1420–1648UCSCC-terminal domain of SPAR protein

Gene Aliases

HGNC Name

signal induced proliferation associated 1 like 2

HGNC Alias Symbols

KIAA1389; SPAR2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020808.5

p.M270T

c.809T>C

Surrounding Variants

1 paper

NM_020808.5

p.L268H

c.803T>A

2 papers

NM_020808.5

p.R293Q

c.878G>A

1 paper

NM_020808.5

p.S243fs

c.727_728fs

1 paper

NM_020808.5

p.E303K

c.907G>A

1 paper

NM_020808.5

p.R235H

c.704G>A

1 paper

NM_020808.5

p.F305F

c.915C>T

1 paper

NM_020808.5

p.T308A

c.922A>G

1 paper

NM_020808.5

p.L311L

c.933G>A

1 paper

NM_020808.5

p.R315*

c.943C>T

1 paper

NM_020808.5

p.Y220*

c.660T>G

1 paper

NM_020808.5

p.Y220*

c.660T>A

1 paper

NM_020808.5

p.R327*

c.979C>T